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De La Recherche De Gènes Candidats Du Syndrome D’Aicardi, À La Caractéristation Du Spectre Mutationnel Des Gènes IL1RAPL1 Et MBD5 Asma Ali Khan

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De La Recherche De Gènes Candidats Du Syndrome D’Aicardi, À La Caractéristation Du Spectre Mutationnel Des Gènes IL1RAPL1 Et MBD5 Asma Ali Khan Les analyses pangénomiques dans l’exploration génétique de la déficience intellectuelle : de la recherche de gènes candidats du syndrome d’Aicardi, à la caractéristation du spectre mutationnel des gènes IL1RAPL1 et MBD5 Asma Ali Khan To cite this version: Asma Ali Khan. Les analyses pangénomiques dans l’exploration génétique de la déficience intel- lectuelle : de la recherche de gènes candidats du syndrome d’Aicardi, à la caractéristation du spectre mutationnel des gènes IL1RAPL1 et MBD5. Médecine humaine et pathologie. Université de Lorraine, 2012. Français. NNT : 2012LORR0147. tel-01749343 HAL Id: tel-01749343 https://hal.univ-lorraine.fr/tel-01749343 Submitted on 29 Mar 2018 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. AVERTISSEMENT Ce document est le fruit d'un long travail approuvé par le jury de soutenance et mis à disposition de l'ensemble de la communauté universitaire élargie. Il est soumis à la propriété intellectuelle de l'auteur. Ceci implique une obligation de citation et de référencement lors de l’utilisation de ce document. D'autre part, toute contrefaçon, plagiat, reproduction illicite encourt une poursuite pénale. Contact : [email protected] LIENS Code de la Propriété Intellectuelle. articles L 122. 4 Code de la Propriété Intellectuelle. articles L 335.2- L 335.10 http://www.cfcopies.com/V2/leg/leg_droi.php http://www.culture.gouv.fr/culture/infos-pratiques/droits/protection.htm Ecole Doctorale BioSE (Biologie-Santé-Environnement) Thèse Présentée et soutenue publiquement pour l’obtention du titre de DOCTEUR DE l’UNIVERSITÉ DE LORRAINE Mention : « Sciences de la Vie et de la Santé » par Asma Ali KHAN Les analyses pangénomiques dans l’exploration génétique de la déficience intellectuelle : de la recherche de gènes candidats du syndrome d’Aicardi, à la caractérisation du spectre mutationnel des gènes IL1RAPL1 et MBD5 Date de soutenance : 13 Novembre 2012 Membres du jury : Rapporteurs : Pr. Jean-Luc BRESSON Génétique, Histologie - Biologie du Développement et de la reproduction, Université de Franche-Comté, Besançon Dr. Elisabeth FLORI Cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg Examinateurs : Pr. Bruno LEHEUP Génétique Humaine, Université de Lorraine, Nancy Pr. Philippe JONVEAUX Génétique Humaine, Université de Lorraine, Nancy (Directeur de thèse) Membres invités: Dr. Marie-Dominique DEVIGNES LORIA, CNRS, Université de Lorraine, Nancy Dr. Christophe NEMOS Génétique Humaine, Université de Lorraine, Nancy (Co-Directeur de thèse) Laboratoire de génétique-EA4368-IFR 111 Déficiences mentales et anomalies de structure du génome, CHU de Nancy Rue du Morvan 54511 Vandoeuvre-les-Nancy Remerciements Mes remerciements les plus sincères vont à Monsieur le Professeur Philippe JONVEAUX, mon directeur de thèse : merci Monsieur de m’avoir accueillie dans votre équipe, et de m'avoir accordé votre confiance. Je vous suis également reconnaissante pour votre encadrement scientifique, votre gentillesse et votre disponibilité, ainsi que vos précieux conseils et votre aide tout au long de mon stage. Votre patience, votre motivation, votre immense savoir sur le génétique humaine ainsi que vos encouragements m’ont aidé dans la rédaction de cette thèse. Je souhaite exprimer ma plus profonde reconnaissance à Madame le Docteur Elisabeth FLORI d’avoir accepté la tache d’être rapporteur de cette thèse. Je remercie très sincèrement Monsieur le Professeur Jean-Luc BRESSON pour l'honneur qu'il me fait en acceptant d'évaluer ce travail, et d'être rapporteur de thèse. J’exprime toute ma reconnaissance à Monsieur le Professeur Bruno LEHEUP qui m’a fait l’honneur de présider le jury de cette thèse, d’examiner mes travaux et pour son intérêt et son soutien chaleureux. Je tiens à exprimer mes sincères remerciements à Madame le Docteur Marie-Dominique DEVIGNES et à Emmanuel BRESSO de l’équipe du LORIA pour leur collaboration et pour les études bioinformatiques. Toute ma profonde gratitude à Madame le Docteur Céline BONNET pour son aide, ses conseils, son encadrement, sa disponibilité, son savoir-faire inestimable. Cette thèse n'aurait pas été possible sans son aide et son soutien, à la fois au niveau professionnel et au niveau personnel. Je lui suis très reconnaissante. Mes remerciements très chaleureux vont aussi à Madame Marie-José GREGOIRE, pour son aide à la correction de ce manuscrit et pour ses encouragements. 2 Je tiens à remercier Madame Brigitte LEOTARD pour ses chaleureux conseils avisés, son soutien et ses encouragements. J’exprime toute ma reconnaissance à Madame le Docteur Mylène BERI-DEXHEIMER pour sa gentillesse, sa disponibilité et ses conseils avisés. Je tiens à remercier Monsieur le Docteur Christophe PHILIPPE, qui accorde toujours gentiment son temps pour répondre à toutes mes questions, j'ai également bénéficié de ses conseils. Je remercie également Madame le Docteur Joanna SOKOLOWSKA-GILLOIS, Madame Fabienne FRANCOIS et Madame le Docteur Myriam BRONNER pour leur accueil chaleureux et leur bonne humeur. Je tiens également à remercier Madame le Docteur Saliha YILMAZ qui a travaillé avant moi sur le syndrome d’Aicardi. Mes remerciements s’adressent aux médecins et techniciennes du secteur Cytogénétique : Madame le Docteur Mylène VALDUGA, Monsieur le Docteur Marc MULLER, Stéphanie, Marie, Marie-Pierre, Sylvie et particulièrement Séverine pour la réalisation des analyses par CGH-array. Je tiens également à exprimer mes remerciements amicaux aux techniciens du secteur oncogénique : Carole, Evelyne, Christelle, Claire, Didier qui m’ont toujours m’intégrée dans le planning très chargé du séquenceur ABI 3130. Que soient également remerciés l’ensemble du personnel du laboratoire pour son accueil chaleureux et sa courtoisie : -au secteur génétique constitutionnelle : Madame le Docteur Lætitia LAMBERT, Madame le Docteur Virginie ROTH, Peggy et Aïssa et particulièrement Aline pour son aide dans des manipulations génétiques moléculaires. -au secteur hématologie : Nathalie pour son aide sur la RT-PCR, Alice, Emeline, Valérie, Julie et Christelle. 3 -au secteur prénatal et postnatal : Mireille, Sophie, Brigitte, Mélina, Mathieu, Elise, Mylène, Chantal. -aux secrétaires : Séverine, Magalie, Clarisse et Claire. Je garderai une place particulière pour Lila ALLOU et Minh T. HUYNH que j’ai côtoyés tout au long de mon stage et qui m’ont été d’une grande sympathie. Cette thèse n’aurait pu être réalisée sans le soutien financier de la Higher Education Commission of Pakistan (HEC) et sans le suivi administratif de SFERE : par Madame Anna MANETA et Madame Somia ASHRAF qui sont toujours là pour résoudre les problèmes administratifs en France. Mes remerciements les plus profonds vont à un grand visionnaire Monsieur le Professeur Atta-ur-Rahman, de la HEC du Pakistan pour avoir eu l'audace et la vision de concevoir notre programme de bourses en dépit des nombreuses critiques. Je voudrais également remercier les gens du Pakistan pour le parrainage de nos études, en dépit de nos ressources limitées. J'espère être en mesure, un jour, de redonner une partie de celui-ci à la nation. Mes parents méritent une mention spéciale pour leur soutien et leurs prières. 4 Table des matières REMERCIEMENTS .................................................................................................... 2 TABLE DES FIGURES .............................................................................................. 7 LISTE DES TABLEAUX............................................................................................. 9 LISTE DES ABREVIATIONS................................................................................... 10 PREAMBULE ET OBJECTIF DU TRAVAIL DE THESE ......................................... 16 1. INTRODUCTION .................................................................................................. 18 1.1 La déficience intellectuelle............................................................................................................................ 18 1.1.1 Classification d’une déficience intellectuelle .......................................................................................... 18 1.1.2 Prévalence de la DI.................................................................................................................................. 19 1.1.3 Etiologie de la DI .................................................................................................................................... 20 1.1.4 La déficience intellectuelle liée au chromosome X (DILX).................................................................... 28 1.1.5 Déficience intellectuelle liée aux autosomes........................................................................................... 41 1.1.6 Physiopathologie des DILX .................................................................................................................... 42 1.2. Les stratégies pour la recherche de gène candidat dans la DI.................................................................. 48 1.2.1 Cartographie génétique...........................................................................................................................
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